Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report by Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn

Get full text

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding by Ibrahim M. Abdelrazek, Alexej Knaus, Behnam Javanmardi, Peter M. Krawitz, Denise Horn, Ebtesam M. Abdalla, Sheetal Kumar

Get full text

Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study by Alisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel, Denise Horn, Claus-Eric Ott, Martin Atta Mensah

Get full text

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance. by Julia Zimmer, Sandra C Doelken, Denise Horn, Jay C Groppe, Eileen M Shore, Frederick S Kaplan, Petra Seemann

Get full text

The importance of routine genetic testing in pediatric epilepsy surgery by Lena‐Luise Becker, Konstantin L. Makridis, Angela T. Abad‐Perez, Ulrich‐Wilhelm Thomale, Anna Tietze, Christian E. Elger, Denise Horn, Angela M. Kaindl

Get full text

Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the <i>ATM</i> Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma by Jan R. Dörr, Anne Thorwarth, Agnieszka Mizia-Malarz, Josefine Radke, Anna Tietze, Pablo Hernáiz-Driever, Denise Horn, Alexander Gratopp, Angelika Eggert, Hedwig E. Deubzer

Get full text

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia by Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

Get full text

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes by Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos

Get full text

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders by Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens

Get full text